Mutagenetix > Incidental Mutation

Incidental Mutation 'R8040:Serpina3b'

618481

Institutional Source

Beutler Lab

Gene Symbol

Serpina3b

Ensembl Gene

ENSMUSG00000066364

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 3B

Synonyms

antitrypsin, A030003A19Rik, alpha-1 antiproteinase, 6A1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8040 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104127996-104139545 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104131076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 205 (I205M)

Ref Sequence

ENSEMBL: ENSMUSP00000082127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085052]

AlphaFold

Q8BYY9

Predicted Effect

probably benign
Transcript: ENSMUST00000085052
AA Change: I205M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: I205M

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
SERPIN	56	417	1.1e-153	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,715,035	D675V	probably benign	Het
Adam21	T	C	12: 81,560,437	R184G	probably benign	Het
Adcy10	A	G	1: 165,552,024	K952E	probably damaging	Het
Allc	A	T	12: 28,555,352	I316N	probably damaging	Het
Ano8	T	C	8: 71,482,168	T432A	probably benign	Het
Cadps2	C	A	6: 23,412,943		probably benign	Het
Camsap2	T	C	1: 136,281,247	S168G		Het
Ccl19	T	C	4: 42,756,297	S12G	probably damaging	Het
Cltc	A	G	11: 86,725,205	S412P	probably damaging	Het
Cwc25	A	G	11: 97,750,870		probably null	Het
Cxcr4	A	G	1: 128,589,798	F42S	probably damaging	Het
Cyp4a12a	A	G	4: 115,326,215	Q177R	probably benign	Het
Dnal4	T	C	15: 79,761,968	T112A	probably benign	Het
Dock9	C	A	14: 121,651,794	G304C	probably benign	Het
Evpl	T	C	11: 116,222,932	T1311A	probably damaging	Het
Fat4	T	C	3: 38,981,666	Y3156H	probably damaging	Het
Golgb1	A	G	16: 36,913,479	I1070M	possibly damaging	Het
Hcls1	A	G	16: 36,951,149	D139G	probably damaging	Het
Ighv1-7	A	G	12: 114,538,770	S26P	probably benign	Het
Il1r1	A	T	1: 40,313,349	T563S	probably benign	Het
Kcna1	C	T	6: 126,642,740	D206N	probably benign	Het
Kcnk4	A	G	19: 6,927,627	Y219H	probably damaging	Het
Kcnt2	G	A	1: 140,450,217	A403T	probably damaging	Het
Maats1	A	G	16: 38,320,371	S407P	possibly damaging	Het
Mdp1	T	A	14: 55,660,066	N44I	probably benign	Het
Nceh1	A	G	3: 27,241,225	N212D	probably benign	Het
Nynrin	G	A	14: 55,871,525	G1363D	probably benign	Het
Olfr1165-ps	T	A	2: 88,101,359	R209S	unknown	Het
Olfr26	T	A	9: 38,855,164	I34N	probably damaging	Het
Olfr429	T	C	1: 174,089,157	I39T	possibly damaging	Het
Olfr986	A	G	9: 40,187,421	H102R	probably damaging	Het
Papd7	A	G	13: 69,500,481	Y719H	probably damaging	Het
Parp2	T	A	14: 50,810,173	M47K	probably benign	Het
Pfdn6	T	C	17: 33,939,977		probably benign	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Plb1	T	A	5: 32,273,069	H123Q	possibly damaging	Het
Pml	C	A	9: 58,234,685	R288L	probably benign	Het
Prodh2	A	G	7: 30,506,411	D238G	probably damaging	Het
Rad51ap2	T	A	12: 11,458,791	S905T	probably benign	Het
Sclt1	C	T	3: 41,657,376	R487H	probably damaging	Het
Sowahb	A	G	5: 93,043,433	S476P	possibly damaging	Het
Srgap3	C	T	6: 112,739,364	R625H	probably benign	Het
Tnxb	T	C	17: 34,716,558	Y2611H	probably damaging	Het
Uggt1	T	C	1: 36,211,473	E237G	possibly damaging	Het
Vmn1r87	T	A	7: 13,132,159	Y67F	possibly damaging	Het
Vmn2r107	G	A	17: 20,375,546	C787Y	probably damaging	Het
Zscan4-ps3	T	A	7: 11,612,673	I212N	probably damaging	Het

Other mutations in Serpina3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Serpina3b	APN	12	104138787	missense	probably benign	0.03
IGL00427:Serpina3b	APN	12	104132941	missense	probably benign	0.06
IGL01637:Serpina3b	APN	12	104132957	missense	probably benign	0.00
IGL01738:Serpina3b	APN	12	104130832	missense	probably damaging	1.00
IGL02403:Serpina3b	APN	12	104130462	start codon destroyed	probably null	1.00
IGL03118:Serpina3b	APN	12	104131054	missense	probably benign	0.22
R0141:Serpina3b	UTSW	12	104130771	missense	probably damaging	1.00
R0217:Serpina3b	UTSW	12	104130727	missense	probably damaging	1.00
R0437:Serpina3b	UTSW	12	104130670	missense	probably damaging	1.00
R1295:Serpina3b	UTSW	12	104130879	missense	probably damaging	1.00
R1463:Serpina3b	UTSW	12	104138710	missense	probably benign	0.02
R1802:Serpina3b	UTSW	12	104138637	missense	probably damaging	1.00
R2104:Serpina3b	UTSW	12	104138810	missense	probably benign	0.01
R3871:Serpina3b	UTSW	12	104138788	missense	probably damaging	1.00
R4720:Serpina3b	UTSW	12	104130630	missense	possibly damaging	0.80
R5827:Serpina3b	UTSW	12	104130777	missense	probably benign	0.02
R5970:Serpina3b	UTSW	12	104134091	missense	possibly damaging	0.82
R6014:Serpina3b	UTSW	12	104131097	missense	possibly damaging	0.93
R6102:Serpina3b	UTSW	12	104134169	missense	probably benign	0.00
R6673:Serpina3b	UTSW	12	104130669	missense	probably damaging	0.96
R6807:Serpina3b	UTSW	12	104132992	missense	probably benign	0.00
R6836:Serpina3b	UTSW	12	104134082	missense	probably benign	0.30
R6893:Serpina3b	UTSW	12	104133026	missense	probably benign	0.04
R7414:Serpina3b	UTSW	12	104132886	missense	probably benign	0.03
R7539:Serpina3b	UTSW	12	104130711	missense	possibly damaging	0.75
R7748:Serpina3b	UTSW	12	104130463	start codon destroyed	probably null	1.00
R7817:Serpina3b	UTSW	12	104132964	missense	probably benign	0.01
R8143:Serpina3b	UTSW	12	104130534	missense	probably benign	0.06
R8360:Serpina3b	UTSW	12	104138703	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCCTGTTTGTTGAAAAGCAC -3'
(R):5'- GACATGTCCCAGGAATTACATCAC -3'

Sequencing Primer
(F):5'- CTGTTTGTTGAAAAGCACCTGCAG -3'
(R):5'- TCACTATCTTAAAATTCTCAGAGGGG -3'

Posted On

2020-01-23